M41V (p.Met41Val) variant of TMEM43 (Transmembrane protein 43)
M41V (p.Met41Val) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Arrhythmogenic right ventricular dysplasia 5; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
M41V (p.Met41Val) variant details
- p.Met41Val
- rs144334386
- ClinGen CA024600
- ClinVar RCV000172113
- ClinVar RCV000770178
- Conflicting interpretations
- not provided; Arrhythmogenic right ventricular dysplasia 5; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.0625
- REVEL 0.02
- CADD 5.62
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Arrhythmogenic right ventricular dysplasia 5; Card)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)